The skin is a large and complex network of cells and blood vessels. All three layers of the skin can fall prey to many conditions, including hidradenitis suppurativa (HS), a chronic inflammatory follicular disease that features painful lumps where the skin folds, such as in the armpits and groin.
Several factors, including genetics and the presence of other coexisting inflammatory conditions, have been found to contribute to the development of HS, with 40-50% of affected individuals having a family history of the condition.
This fall, researchers at the UNC School of Medicine have received a $2.3-million grant from the National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS) to continue their research into the genetics of this disease, which affects about 3.5 million people in the United States.
A R01 grant was awarded to co-investigators Chris Sayed, MD, professor of dermatology; Yun Li, PhD, professor of genetics and biostatistics; and Karen Mohlke, PhD, professor of genetics, to build on their previous work, which identified genetic variants that impact the risk of developing HS.
“Every stage of this work has relied on collaboration between investigators in the UNC Departments of Dermatology and Genetics,” said Sayed. “This unique collaboration has allowed us to connect clinical data and specimens with expert geneticists, who are instrumental in helping us generate and analyze scientific data.”
Hidradenitis suppurativa (HS) can range in severity from tender nodules and pus-filled abscesses to chronic draining tunnels with extensive scarring and chronic pain, and risk of infection. Black people are three time more likely than white people to develop HS, and women are similarly three times more likely to be affected compared to men.
This research team’s previous work identified specific locations on the human genome that may contribute to one’s genetic risk of developing HS. Through a genome-wide association study, researchers identified two genes of interest, SOX9 and KLF5, which are involved in the growth of hair follicles and the epidermis, the skin’s outermost layer.
With this next grant, researchers will build a larger study cohort for their Hidradenitis Suppurativa Program for Research and Care Excellence (ProCARE) at UNC Department of Dermatology, and they are arranging a multi-institutional consortium to perform their genetic analysis on a larger scale. The team also aims to better understand SOX9 and KLF5 and the potential role of these genes in the development and progression of the condition.
